Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990423del , CM000683.2:g.45990423del | GRCh38 |
| NC_000021.8:g.47410337del , CM000683.1:g.47410337del | GRCh37 |
| NC_000021.7:g.46234765del | NCBI36 |
| NG_008674.1:g.13675del , LRG_475:g.13675del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+1del | ||
| ENST00000361866.7:c.1002+1del | ||
| ENST00000612273.1:c.1002+1del | ||
| NM_001848.2:c.1002+1del , LRG_475t1:c.1002+1del | ||
| NM_001848.3:c.1002+1del |